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Abstract. Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among. Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism- alacrima syndrome or Allgrove syndrome, is a rare autosomal recessive. Disease summary: Allgrove Syndrome (AS) is rare autosomal recessive disorder characterised by achalasia cardia, alacrimia and adrenal insufficiency, which is.

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Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond to usual therapies. Views Read Edit View history. At 37, our patient is the oldest reported case.

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The syndrome is highly variable. Allgrive diagnosis of primary adrenal insufficiency usually includes consideration of an autoimmune basis where adrenal antibody status should be tested with or without other pointers to polyautoimmune endocrinopathyinfective causes tuberculosis, viruses and mycoses and, in older patients, malignant infiltration.

Additional information Further information on this disease Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5.

Discussion This patient with Allgrove syndrome, who developed symptoms of severe life-threatening adrenal insufficiency at age 36, but retained normal mineralocorticoid function, is the oldest reported case surviving with undiagnosed adrenal insufficiency.

Clin Endocrinol ; MRI of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows. Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter and artificial tear sjndrome.

Hum Mol Genet ; 5: Treacher Collins syndrome Spinocerebellar ataxia 7 Syndromd body: Differential diagnosis thus includes other causes of adrenal insufficiency, achalasia or alacrima such as frequent forms of congenital adrenal hyperplasia easily excluded with dosage of adrenal hormones precursorsand rare peripheral forms of congenital adrenal insufficiency or adrenoleukodystrophy, which might be associated with neurological features.


Differential diagnosis Given that the presence of 2 among the 3 main clinical signs achalasia, alacrima or adrenal insufficiency is pathognomonic, differential diagnosis can be considered when only one clinical algrove is observed, for example at the onset of the disease.

J Clin Endocrinol Metab ; Over several years he had sought professional help for erectile dysfunction allgeove ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success.

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A diagnosis of Allgrove syndrome was made clinically, and adrenal insufficiency was confirmed with the discovery of elevated ACTH and low basal cortisol levels see Box 1. Bulbar involvement and optic atrophy were observed.

This section is empty. Neurological dysfunction — not universal, but the combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency.

One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension. Diagnosis of hypocortisolism is frequently delayed for patients with adrenal insufficiency, because of the subtle nature of clinical complaints weakness, tiredness, dizziness and slow weight loss.

Do you have any competing interests to declare? Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. ACTH insensitivity due to adrenocortical atrophy is the resultant clinical picture. Following features of achalasia cardia are seen.

Peripheral motor and sensory neuropathy are common, 10 and may be subtle in childhood. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Check this box if you wish to receive a copy of your message.

Twenty years before these events the patient had developed swallowing difficulties. Autosomal recessive disorders Syndromes affecting the gastrointestinal tract Congenital disorders Rare syndromes Nucleus diseases Medical triads Syndromes affecting the eyes Syndromes affecting the endocrine system. Marital separation followed this difficult period.


For the vascular condition, see Abdominal aortic aneurysm. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality. Alacrima — ascertaining this usually depends on direct questioning about tear production.

Triple-A syndrome

Summary Sgndrome Prevalence is unknown but less than cases have been published since the first description in The appropriate management of the disease ameliorates the prognosis significantly.

The documents contained in this web site are presented allgtove information purposes only. It shows non relaxation of lower oesophageal sphincter, increased tone of oesophageal sphincteratonic oesophagus. Specialised Social Services Eurordis directory. Infobox medical condition new Articles to be expanded from August Lalgrove articles to be expanded Articles with empty sections from August All articles with empty sections Articles using small message boxes. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Allgrove syndrome in adulthood. Use the Advanced search for more specific terms. Summary and related texts. The gold standard investigation is a 24 hours manometry of oesophagus.

Orphanet: Triple A syndrome Allgrove syndrome

His family history was unremarkable and did not include consanguinity. The onset of Triple A syndrome varies between infancy and adulthood. In cases reported previously, adrenal insufficiency was usually diagnosed in the first decade 6 with a few exceptions 278accompanied by hypoglycaemia and increased skin pigmentation. Achalasia was diagnosed on radiological and endoscopic findings, with symptomatic improvement following pneumatic dilatation. In most cases, there is no family history allgroe it.

Growth and puberty occurred normally. Only comments written in English can be processed.